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Article

The genetics of cystinuria - an update and critical reevaluation.

Current opinion in nephrology and hypertension - 1 Mar 2024

Abad Baucells Clàudia, Schönauer Ria, Halbritter Jan

Abstract excerpt

PURPOSE OF REVIEW: We aimed to critically evaluate how the establishment of genotype-based treatment for cystinuria has been hampered due to the large number of variants of unknown significance (VUS) within the disease causing genes as well as challenges in accessing a large enough sample size for systematic analysis of endpoint parameters that truly reflect disease severity. This review further discusses how to...

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Identifiers

PMID: 38240263
DOI: 10.1097/MNH.0000000000000949

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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